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Research 241–270 of 1000+
- Disorders of Keratinization
- Woolly Hair in Two Siblings
- Curly : a new hair defect mutation in the SELH/bc mouse strain
- Research Snippets
- Alopecia frontal fibrosante: revisão bibliográfica dos aspectos gerais, fisiopatológicos, diagnósticos e do tratamento
- Odd-Looking Hair and Progressive Alopecia in Mother and Son
- The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
- When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
- Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
- Atrichia With Papular Lesions
- A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
- Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants
- Nonclassic 21-hydroxylase deficiency
- An Update of Congenital Adrenal Hyperplasia
- Ocular aspects in biotinidase deficiency Clinical and genetic original studies
- An unusual presentation of vitamin D dependent rickets type 2 with low 25 (OH) D3 levels and alopecia: a case report of two siblings
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
- 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
- Netherton Syndrome Associated with Growth Hormone Deficiency
- Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
- Trichothiodystrophy: Current Concepts
- GAPO syndrome – Report of a rare case and review
- Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
- Congenital erythropoietic porphyria five years observation with standard treatment: a case report
- A Rare Case of Biotinidase Deficiancy
- Netherton Syndrome